Incidental Mutation 'IGL00163:Zfp511'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp511
Ensembl Gene ENSMUSG00000025470
Gene Namezinc finger protein 511
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL00163
Quality Score
Chromosomal Location140036391-140040602 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140037516 bp
Amino Acid Change Tyrosine to Histidine at position 144 (Y144H)
Ref Sequence ENSEMBL: ENSMUSP00000129154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026547] [ENSMUST00000168194] [ENSMUST00000209574] [ENSMUST00000210224] [ENSMUST00000211261] [ENSMUST00000211638] [ENSMUST00000211789]
Predicted Effect probably benign
Transcript: ENSMUST00000026547
SMART Domains Protein: ENSMUSP00000026547
Gene: ENSMUSG00000025474

low complexity region 109 121 N/A INTRINSIC
Pfam:Spc97_Spc98 220 738 8.6e-123 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168194
AA Change: Y144H

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129154
Gene: ENSMUSG00000025470
AA Change: Y144H

low complexity region 32 45 N/A INTRINSIC
ZnF_C2H2 80 105 4.23e0 SMART
ZnF_C2H2 107 130 1.36e1 SMART
ZnF_C2H2 144 169 3.52e-1 SMART
low complexity region 186 205 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210089
Predicted Effect probably benign
Transcript: ENSMUST00000210224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210419
Predicted Effect unknown
Transcript: ENSMUST00000210882
AA Change: Y119H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211186
Predicted Effect probably benign
Transcript: ENSMUST00000211261
Predicted Effect probably benign
Transcript: ENSMUST00000211638
Predicted Effect silent
Transcript: ENSMUST00000211789
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cdadc1 G T 14: 59,581,369 H337N probably damaging Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Eif3h T A 15: 51,786,799 I330F probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Hsd17b2 A T 8: 117,758,671 D291V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr50 A G 2: 36,794,000 I255V probably benign Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Ptn T C 6: 36,743,489 K43E probably benign Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tmem259 A G 10: 79,979,734 V81A probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Other mutations in Zfp511
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1413:Zfp511 UTSW 7 140037615 missense probably damaging 1.00
R1706:Zfp511 UTSW 7 140037279 missense probably benign 0.00
R2888:Zfp511 UTSW 7 140039382 missense probably benign 0.04
R3115:Zfp511 UTSW 7 140036591 missense probably benign 0.01
R3116:Zfp511 UTSW 7 140036591 missense probably benign 0.01
R4720:Zfp511 UTSW 7 140037511 splice site probably null
Posted On2011-07-12